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Six children with Kabuki syndrome were studied to investigate speech patterns associated with the syndrome. Each child's speech was characterized with regard to articulation (types of errors and intelligibility), pitch (high or low), loudness (volume of speech), and prosody (general quality of...
Type 1 Gaucher disease is considered the non‐neuronopathic form of this autosomal recessively inherited lysosomal storage disease. We report the simultaneous occurrence of Gaucher disease with parkinsonian in four adult patients. The patients had a relatively early onset of parkinsonian...
Sialidosis (McKusick 256550) is an autosomal recessive disorder resulting from mutations in the NEU gene, located in 6p21.3, which leads to deficiency of alpha‐N‐acetyl neuraminidase (sialidase) activity, causing an accumulation of its substrates, oligosaccharides, in the lysosomes of various...
Sotos syndrome is a growth regulation disorder. Accessory conduction pathways, the anatomical structures responsible for Wolff‐Parkinson‐White syndrome, are thought to result from developmental failure to eradicate the remnants of the atrioventricular connections during cardiogenesis....
Purpose: Children at high risk of future disease may be recruited for participation in disease susceptibility research involving genetic testing. This study was aimed at assessing parents' and children's reactions to such research, and their perceptions of risks and benefits of participating....
We present an eleven‐year‐old female patient who was referred to us with silvery hair, hepatosplenomegaly, neutropenia‐thrombocytopenia, hypogammaglobulinemia and degenerative white matter disease, with a family history of a female sibling dying at the age of five and two living male...
The association between isolated congenital heart defects and consanguinity was examined in 759 Lebanese patients with different types of congenital heart malformations. The subjects were patients of the Children's Cardiac Registry Center (CCRC) at the American University of Beirut Medical...
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